Two Brothers from Macedonia with Gitelman Syndrome

1. Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: pathophysiological and clinical aspects. QJM. 2010; 103(10):741–748. GrazianiG FedeliC MoroniL CosmaiL BadalamentiS PonticelliC Gitelman syndrome: pathophysiological and clinical aspects QJM 2010 103 10 741 748 Search in Google Scholar

2. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys. 1966; 79: 221–235. GitelmanHJ GrahamJB WeltLG A new familial disorder characterized by hypokalemia and hypomagnesemia Trans Assoc Am Phys 1966 79 221 235 Search in Google Scholar

3. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet. 1996; 12: 24–30. SimonDB Nelson-WilliamsC BiaMJ EllisonD KaretFE MolinaAM Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter Nature Genet 1996 12 24 30 Search in Google Scholar

4. Knoers NVA, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 30;3: 22. KnoersNVA LevtchenkoEN Gitelman syndrome Orphanet J Rare Dis 2008 30 3 22 Search in Google Scholar

5. Blanchard A, Vallet M, Dubourg L, Hureaux M, Allard J, Haymann JP et al. Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study. J Am Soc Nephrol. 2019 Aug;30(8):1534–1545. BlanchardA ValletM DubourgL HureauxM AllardJ HaymannJP Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study J Am Soc Nephrol 2019 Aug 30 8 1534 1545 Search in Google Scholar

6. Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML et al. Early appearance of hypokalemia in Gitelman syndrome. Pediatr Nephrol. 2010; 25:2179–2182. TammaroF BettinelliA CattarelliD CavazzaA ColomboC SyrénML Early appearance of hypokalemia in Gitelman syndrome Pediatr Nephrol 2010 25 2179 2182 Search in Google Scholar

7. Zelikovic I: Molecular pathophysiology of tubular transport disorders. Pediatr Nephrol.2001; 16:919–935. ZelikovicI Molecular pathophysiology of tubular transport disorders Pediatr Nephrol 2001 16 919 935 Search in Google Scholar

8. Al Shibli A, Narchi H. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations. World J Methodol. 2015; 26;5(2):55–61. Al ShibliA NarchiH Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations World J Methodol 2015 26 5 2 55 61 Search in Google Scholar

9. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F. et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996; 59: 1019–1026. MastroianniN BettinelliA BianchettiM ColussiG De FuscoM SereniF Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome Am J Hum Genet 1996 59 1019 1026 Search in Google Scholar

10. Viering DHHM, Hureaux M, Neveling K, Latta F, Kwint M, Blanchard A et al. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. J Am Soc Nephrol. 2023 1;34(2):333–345. VieringDHHM HureauxM NevelingK LattaF KwintM BlanchardA Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome J Am Soc Nephrol 2023 1 34 2 333 345 Search in Google Scholar

11. Kleta R, Bockenhauer D. Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial? J Am Soc Nephrol. 2018;29(3):727–739. KletaR BockenhauerD Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial? J Am Soc Nephrol 2018 29 3 727 739 Search in Google Scholar

12. Ashton E, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC et al. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Clin Invest. 2018; 93: 961–967. AshtonE LegrandA BenoitV RoncelinI VenisseA ZennaroMC Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies Clin Invest 2018 93 961 967 Search in Google Scholar

13. Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C et al. High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercal-cmia hypocalciuria in adults. Kidney Int 2019;96(6):1408–1416. HureauxM AshtonE DahanK HouillierP BlanchardA CormierC High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercal-cmia hypocalciuria in adults Kidney Int 2019 96 6 1408 1416 Search in Google Scholar

14. Leung JC. Inherited renal diseases. Curr Pediatr Rev. 2014;10(2):95–100. LeungJC Inherited renal diseases Curr Pediatr Rev 2014 10 2 95 100 Search in Google Scholar

15. Gitelman syndrome. Genetics Home Reference. February 2011. Gitelman syndrome. Genetics Home Reference February 2011 Search in Google Scholar

16. Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, et al. Clinical and diagnostic features of Bartter and Gitelman syndromes. Clin Kidney J. 2018;11(3):302–309. WalshPR TseY AshtonE IancuD JenkinsL BieniasM Clinical and diagnostic features of Bartter and Gitelman syndromes Clin Kidney J 2018 11 3 302 309 Search in Google Scholar

17. Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017; 91(1):24–33. BlanchardA BockenhauerD BolignanoD CalòLA CosynsE DevuystO Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Kidney Int 2017 91 1 24 33 Search in Google Scholar

18. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, for Yale Gitelman’s and Bartter’s Syndrome Collaborative Study Group. Gitelman’s syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001; 59:710–717. CruzDN ShaerAJ BiaMJ LiftonRP SimonDB for Yale Gitelman’s and Bartter’s Syndrome Collaborative Study Group Gitelman’s syndrome revisited: an evaluation of symptoms and health-related quality of life Kidney Int 2001 59 710 717 Search in Google Scholar

19. Pachulski RT, Lopez F, Sharaf R. Gitelman’s not-so-benign syndrome. N Engl J Med. 2005; 353:850–851. PachulskiRT LopezF SharafR Gitelman’s not-so-benign syndrome N Engl J Med 2005 353 850 851 Search in Google Scholar

20. Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002; 112:183–190. PetersM JeckN ReinalterS LeonhardtA TönshoffB KlausG Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies Am J Med 2002 112 183 190 Search in Google Scholar

21. Emmett M, Ellison D. Bartter and Gitelman syndromes. In: Sterns RH, Forman JP. UpToDate. Waltham, MA: UpToDate; Last updated February 7, 2018; Accessed 2/22/2018. EmmettM EllisonD Bartter and Gitelman syndromes In: SternsRH FormanJP UpToDate Waltham, MA UpToDate Last updated February 7, 2018; Accessed 2/22/2018. Search in Google Scholar

22. Ungaro CM, Odstrcil-Bobillo MS, Russo PM. Gitelman syndrome. Medicina (B Aires). 2020;80(1):87–90. UngaroCM Odstrcil-BobilloMS RussoPM Gitelman syndrome Medicina (B Aires) 2020 80 1 87 90 Search in Google Scholar

23. Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N et al. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. J Hum Genet. 2018 Jul;63(8):887–892. MatsunoshitaN NozuK YoshikaneM KawaguchiA FujitaN MorisadaN Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome J Hum Genet 2018 Jul 63 8 887 892 Search in Google Scholar

24. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011;22(4):693–703. Vargas-PoussouR DahanK KahilaD VenisseA Riveira-MunozE DebaixH Spectrum of mutations in Gitelman syndrome J Am Soc Nephrol 2011 22 4 693 703 Search in Google Scholar

25. Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg, EJ et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Europ. J. Hum. Genet. 2012; 20: 263–270. GlaudemansB YntemaHG San-CristobalP SchootsJ PfundtR KamsteegEJ Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome Europ. J. Hum. Genet 2012 20 263 270 Search in Google Scholar

26. Rosado Rubio C, Fraile Gómez P, Gómez Muñoz MA, Garcia-Cosmes P, Lerma Márquez JL. C1q nephropathy in a patient with Gitelman syndrome. NDT Plus. 2011;4(6):392–393. Rosado RubioC Fraile GómezP Gómez MuñozMA Garcia-CosmesP Lerma MárquezJL C1q nephropathy in a patient with Gitelman syndrome NDT Plus 2011 4 6 392 393 Search in Google Scholar

27. Rego T, Fonseca F, Cerqueira R, Agapito A. Gitelman syndrome and primary hyperparathyroidism: a rare association. BMJ Case Rep. 2018; 5; pii: bcr-2017-223663. RegoT FonsecaF CerqueiraR AgapitoA Gitelman syndrome and primary hyperparathyroidism: a rare association BMJ Case Rep 2018 5 pii: bcr-2017-223663. Search in Google Scholar

28. Huang K, Dai YL, Zhang JW, Zhang L, Wu W, Dong GP, et al. Gitelman syndrome combined with growth hormone deficiency: Three cases report. Medicine (Baltimore). 2019;98(40): e17244. HuangK DaiYL ZhangJW ZhangL WuW DongGP Gitelman syndrome combined with growth hormone deficiency: Three cases report Medicine (Baltimore) 2019 98 40 e17244 Search in Google Scholar

29. Sinha A, Lněnička P, Basu B, Gulati A, Hari P, Bagga A. Gitelman syndrome: novel mutation and long-term follow-up. Clin Exp Nephrol. 2012;16(2):306–309. SinhaA LněničkaP BasuB GulatiA HariP BaggaA Gitelman syndrome: novel mutation and long-term follow-up Clin Exp Nephrol 2012 16 2 306 309 Search in Google Scholar

30. Filippatos TD, Rizos CV, Tzavella E, Elisaf MS. Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities. Int Urol Nephrol. 2018;50(1):91–96. FilippatosTD RizosCV TzavellaE ElisafMS Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities Int Urol Nephrol 2018 50 1 91 96 Search in Google Scholar

31. Klemmer PJ. Gitelman Syndrome. National Organization for Rare Disorders (NORD). 2015. KlemmerPJ Gitelman Syndrome National Organization for Rare Disorders (NORD) 2015 Search in Google Scholar

32. Lee JH, Lee J, Han JS. Gitelman’s syndrome with vomiting manifested by severe metabolic alkalosis and progressive renal insufficiency. Tohoku J Exp Med. 2013; 231(3):165–169. LeeJH LeeJ HanJS Gitelman’s syndrome with vomiting manifested by severe metabolic alkalosis and progressive renal insufficiency Tohoku J Exp Med 2013 231 3 165 169 Search in Google Scholar